Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Dyskeratosis congenita

R A Drachtman1, B P Alter

  • 1Division of Pediatric Hematology/Oncology, University of Medicine and Dentistry, New Jersey-Robert Wood Johnson Medical School, New Brunswick, USA.

Dermatologic Clinics
|January 1, 1995
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

VACTERL-H Association and Fanconi Anemia.

Molecular syndromology·2013
Same author

Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita.

Bone marrow transplantation·2010
Same author

Oral and dental phenotype of dyskeratosis congenita.

Oral diseases·2008
Same author

Radiologic placement of a low profile implantable venous access port in a pediatric population.

Cardiovascular and interventional radiology·2002
Same author

Griscelli syndrome: rare neonatal syndrome of recurrent hemophagocytosis.

Journal of pediatric hematology/oncology·2002
Same author

Modern review of congenital hypoplastic anemia.

Journal of pediatric hematology/oncology·2001

Dyskeratosis congenita is a rare skin disorder. Early diagnosis and management are crucial due to risks of cancer and blood problems.

Area of Science:

  • Dermatology
  • Genetics
  • Hematology

Background:

  • Dyskeratosis congenita (DC) is a rare inherited disorder.
  • Characterized by mucocutaneous findings, bone marrow failure, and increased cancer risk.
  • Hematologic complications and malignant transformation are significant concerns.

Purpose of the Study:

  • To review diagnostic criteria for dyskeratosis congenita.
  • To outline current treatment guidelines for managing DC.
  • To emphasize the importance of accurate diagnosis for patient outcomes.

Main Methods:

  • Literature review of diagnostic considerations for DC.
  • Synthesis of treatment strategies based on current evidence.
  • Analysis of clinical features and complications.

Related Experiment Videos

Main Results:

  • DC presents with a spectrum of clinical manifestations.
  • Hematologic abnormalities and malignancies are common complications.
  • Timely diagnosis impacts management effectiveness.

Conclusions:

  • Accurate recognition of dyskeratosis congenita is vital.
  • Adherence to established diagnostic and treatment guidelines improves patient care.
  • Multidisciplinary management is often required for complex cases.